Whole genome sequencing helps doctors navigate "diagnostic odysseys."

No matter what his doctors tried, Maverick Coltrin's severe seizures weren't subsiding. The newborn deteriorated rapidly while his medical team rushed to determine the cause of his unrelenting seizures.

Then came the turning point. Doctors at Rady Children's Hospital in San Diego conducted whole genome sequencing (WGS) on little Maverick. WGS is the mapping out of a person's unique DNA, not unlike a distinctive blueprint for a person's body.

Maverick's WGS results enabled his care team to quickly diagnose and treat his illness. For Maverick's mother, Kara Coltrin, the role of WGS in her son's recovery can't be overstated: "Genomic testing saved his life."

Now, a state-funded pilot program aims to help more children like Maverick receive this potentially life-saving diagnostic testing.

Project Baby Bear

In September, Rady Children's launched Project Baby Bear with $2 million in funding from Medi-Cal (California's Medicaid health care program). The program will provide WGS testing for critically ill newborns across the state. Although Rady Children's Institute for Genomic Medicine has conducted WGS for more than 1,200 children since 2016, philanthropic donations had previously paid for most of the testing. Until Project Baby Bear, private insurance and Medi-Cal didn't cover WGS.

"The idea is to turn whole genome sequencing into an instrument that can actually affect care at the bedside," says Donald Kearns, M.D., MMM, president and CEO of Rady Children's. "The challenge is there's a limit to philanthropy, so we need to help third-party and government payers understand this is going to be the new standard of care."

As the technology behind WGS has improved dramatically in recent years, so has its viability as a first-line diagnostic tool for sick newborns:

Speed. Stephen Kingsmore, M.D., DSc, president and CEO of Rady Children's Institute for Genomic Medicine, has perfected a method to speed up WGS diagnoses from weeks to a matter of hours. In fact, his team owns the world record for the fastest WGS diagnosis at 19.5 hours. "Getting it done fast in the intensive care unit makes the biggest difference for the greatest number of children," Kearns says.

Cost savings. Research conducted by Kingsmore and his team indicate rapid WGS can improve patient outcomes and reduce inpatient costs by millions of dollars by diagnosing genetic disorders in time to change acute medical or surgical management for sick infants.

Unknown illness. WGS can detect potential illnesses that haven't yet presented symptoms—or those with subtle symptoms that a newborn isn't able to communicate.

Education is key to widespread implementation

Kearns says he expects Project Baby Bear to fund WGS for about 100 critically ill newborns over the next couple of years and is hopeful the program's findings will pave the way for more widespread WGS testing. The biggest challenge to attaining that goal, according to Kearns, is education:

Physicians. Front-line clinicians must be better educated on WGS and how it can be useful for their patients, and then learn how to treat children based on the data a WGS test provides.

Genomic specialists. "We have a huge shortage of medical geneticists and genetic counselors across the country," Kearns says.

Public. Parents and families need to understand the implications of WGS, especially to alleviate privacy and ethical concerns.

"Education, professional infrastructure, all of those things—that's a big hill to climb," Kearns says. "It (widespread adoption of WGS) is not going to happen like flipping a switch." Despite the challenges, Kearns has seen many stories like Maverick's unfold and sees the significant impact WGS can have in pediatric medicine.

"Wouldn't it be wonderful if we were able to intervene rapidly in children who are diagnostic odysseys," Kearns says. "Over time, I think this is going to be one more incredibly powerful tool for intervening earlier in the sickest kids."